BLOC-1 subunit 5

BLOC1S5
Identifiers
Aliases	BLOC1S5, BLOS5, MU, MUTED, biogenesis of lysosomal organelles complex 1 subunit 5, HPS11
External IDs	OMIM: 607289; MGI: 2178598; GeneCards: BLOC1S5
Gene location (Human)
Chr.	Chromosome 6 (human)
End	8,064,396 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	38,819,085 bp
RNA expression pattern
	Top expressed in
	pancreatic ductal cell; ; visceral pleura; ; parietal pleura; ; tibia; ; tendon of biceps brachii; ; endothelial cell; ; germinal epithelium; ; sperm; ; superficial temporal artery; ; trabecular bone;
	Top expressed in
	epithelium of lens; ; motor neuron; ; endocardial cushion; ; left lobe of liver; ; facial motor nucleus; ; substantia nigra; ; atrioventricular junction; ; renal corpuscle; ; medial vestibular nucleus; ; atrioventricular valve;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	BLOC-1 complex; transport vesicle; axon cytoplasm;
Biological process	melanosome transport; neuron projection development; anterograde synaptic vesicle transport; endosome to melanosome transport; anterograde axonal transport; melanosome organization; positive regulation of pigment cell differentiation;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	63915
	17828
	ENSG00000188428
	ENSMUSG00000038982
	Q8TDH9
	Q8R015
	NM_201280; NM_001199322; NM_001199323
	NM_139063; NM_178054
	NP_001186251; NP_001186252; NP_958437
	NP_620702
	Wikidata
View/Edit Human	View/Edit Mouse

BLOC-1 subunit 5 is a protein that in humans is encoded by the BLOC1S5 gene (previously MUTED).^[5]^[6] This protein is part of the Biogenesis of lysosomal organelles complex 1 (BLOC-1) which, as its name suggests, is involved in biogenesis of lysosome-related organelles (LROs) such as melanosomes and dense granules in platelets.^[6]

Function

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky–Pudlak syndrome is mutated in the murine version of this gene. Some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene.^[6]

Interactions

MUTED has been shown to interact with BLOC1S2,^[7] Dysbindin^[7] and PLDN.^[7]^[8]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000188428 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038982 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT (March 2002). "The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking". Human Molecular Genetics. 11 (6): 697–706. doi:10.1093/hmg/11.6.697. PMC 2847475. PMID 11912185.
1 2 3 "Entrez Gene: MUTED muted homolog (mouse)".
1 2 3 Starcevic M, Dell'Angelica EC (July 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". The Journal of Biological Chemistry. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.
↑ Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (August 2002). "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules". The Journal of Biological Chemistry. 277 (31): 28191–9. doi:10.1074/jbc.M204011200. PMID 12019270.

Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (August 2002). "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules". The Journal of Biological Chemistry. 277 (31): 28191–9. doi:10.1074/jbc.M204011200. PMID 12019270.
Moriyama K, Bonifacino JS (September 2002). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles". Traffic. 3 (9): 666–77. doi:10.1034/j.1600-0854.2002.30908.x. PMID 12191018. S2CID 29888859.
Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL (June 2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)". Blood. 101 (11): 4402–7. doi:10.1182/blood-2003-01-0020. PMID 12576321.
Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT (September 2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)". Nature Genetics. 35 (1): 84–9. doi:10.1038/ng1229. PMC 2860733. PMID 12923531.
Starcevic M, Dell'Angelica EC (July 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". The Journal of Biological Chemistry. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000188428 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038982 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11912185-5] Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT (March 2002). "The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking". Human Molecular Genetics. 11 (6): 697–706. doi:10.1093/hmg/11.6.697. PMC 2847475. PMID 11912185.

[entrez-6] 1 2 3 "Entrez Gene: MUTED muted homolog (mouse)".

[pmid15102850-7] 1 2 3 Starcevic M, Dell'Angelica EC (July 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". The Journal of Biological Chemistry. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.

[pmid12019270-8] Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (August 2002). "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules". The Journal of Biological Chemistry. 277 (31): 28191–9. doi:10.1074/jbc.M204011200. PMID 12019270.

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BLOC-1 subunit 5

Function

Interactions

References

Further reading